Mutagenetix > Incidental Mutation

Incidental Mutation 'R9079:Rcn2'

713549

Institutional Source

Beutler Lab

Gene Symbol

Rcn2

Ensembl Gene

ENSMUSG00000032320

Gene Name

reticulocalbin 2

Synonyms

taipoxin-associated calcium binding protein 49, TCBP-49

MMRRC Submission

068899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55949129-55966367 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 55952393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114276] [ENSMUST00000147842]

AlphaFold

Q8BP92

Predicted Effect

probably benign
Transcript: ENSMUST00000114276

SMART Domains

Protein: ENSMUSP00000109915
Gene: ENSMUSG00000032320

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
EFh	68	96	2.5e-2	SMART
EFh	104	132	3.54e1	SMART
EFh	193	221	6.7e-3	SMART
EFh	234	262	7.57e0	SMART
EFh	270	298	7.23e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147842

SMART Domains

Protein: ENSMUSP00000120953
Gene: ENSMUSG00000032320

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	T	15: 57,989,223 (GRCm39)	S212R	probably benign	Het
Bcl9	A	T	3: 97,112,816 (GRCm39)	V1213E	probably damaging	Het
Brd1	T	C	15: 88,598,153 (GRCm39)	D531G	probably damaging	Het
Cd1d1	T	A	3: 86,906,197 (GRCm39)	Y26F	probably benign	Het
Cep83	T	C	10: 94,564,541 (GRCm39)	F160S	possibly damaging	Het
Cfap61	G	T	2: 145,781,859 (GRCm39)	V31F	probably benign	Het
Cox11	G	A	11: 90,535,246 (GRCm39)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cubn	A	G	2: 13,291,914 (GRCm39)	S3304P	probably benign	Het
Eif4b	T	A	15: 102,003,177 (GRCm39)	D549E	unknown	Het
Extl1	T	A	4: 134,089,975 (GRCm39)	N378Y	probably damaging	Het
Fbxo4	C	T	15: 3,998,388 (GRCm39)		probably null	Het
Fhip1a	C	A	3: 85,579,590 (GRCm39)	G872*	probably null	Het
G430095P16Rik	A	T	8: 85,453,412 (GRCm39)	H133L	unknown	Het
Gm8138	A	T	14: 43,272,502 (GRCm39)	N104K		Het
Gzma	A	G	13: 113,232,858 (GRCm39)	F78S	probably benign	Het
Hars2	T	C	18: 36,923,190 (GRCm39)	S400P	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Htr5b	T	A	1: 121,455,816 (GRCm39)	T35S	probably benign	Het
Jak3	A	C	8: 72,131,898 (GRCm39)	E158A	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Kdm4c	C	A	4: 74,277,738 (GRCm39)	D797E	probably benign	Het
Klhl31	T	A	9: 77,558,151 (GRCm39)	V289E	probably damaging	Het
Loxhd1	T	C	18: 77,490,593 (GRCm39)	S1398P	probably benign	Het
Matn4	A	T	2: 164,235,473 (GRCm39)		probably benign	Het
Mrps28	A	G	3: 8,867,308 (GRCm39)	*187Q	probably null	Het
Myh7b	G	A	2: 155,465,174 (GRCm39)	V677I	probably damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	A	T	17: 32,383,033 (GRCm39)		probably benign	Het
Nr1h2	C	A	7: 44,199,430 (GRCm39)	E440D	possibly damaging	Het
Or1l4b	T	C	2: 37,036,989 (GRCm39)	V255A	probably damaging	Het
Or6c207	A	T	10: 129,104,466 (GRCm39)	M242K	possibly damaging	Het
Or7g16	A	T	9: 18,726,731 (GRCm39)	N286K	probably damaging	Het
Or8g2b	T	A	9: 39,750,769 (GRCm39)	I13N	probably benign	Het
Osbpl9	A	T	4: 108,920,644 (GRCm39)	V543D	possibly damaging	Het
Pcgf6	T	C	19: 47,039,053 (GRCm39)	E69G	possibly damaging	Het
Piezo2	A	G	18: 63,157,537 (GRCm39)	L2391P	probably damaging	Het
Ripor2	G	A	13: 24,915,637 (GRCm39)	R1069H	probably benign	Het
Ro60	A	C	1: 143,641,519 (GRCm39)	L314R	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Senp5	A	T	16: 31,787,718 (GRCm39)	I635N	probably damaging	Het
Slc30a9	A	T	5: 67,484,241 (GRCm39)	K126M	possibly damaging	Het
Slc9b2	A	T	3: 135,042,150 (GRCm39)	R476S	probably damaging	Het
Sptb	G	T	12: 76,677,454 (GRCm39)	R127S	probably damaging	Het
Svil	T	C	18: 5,056,308 (GRCm39)	S394P	probably benign	Het
Tjp1	A	T	7: 64,950,966 (GRCm39)	I1636N	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Trio	T	C	15: 27,733,023 (GRCm39)	I2953V	possibly damaging	Het
Ttn	A	G	2: 76,632,734 (GRCm39)	F14107L	probably damaging	Het
Usp20	A	G	2: 30,895,120 (GRCm39)		probably benign	Het
Vmn1r123	A	T	7: 20,896,979 (GRCm39)	L290F	probably benign	Het
Vmn1r202	T	C	13: 22,685,602 (GRCm39)	M272V	probably benign	Het
Vmn2r97	A	T	17: 19,149,640 (GRCm39)	N343Y	probably benign	Het
Wdr90	A	T	17: 26,076,403 (GRCm39)	W45R		Het

Other mutations in Rcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0316:Rcn2	UTSW	9	55,949,453 (GRCm39)	missense	probably benign	0.00
R0616:Rcn2	UTSW	9	55,963,534 (GRCm39)	missense	probably benign	0.45
R0649:Rcn2	UTSW	9	55,965,419 (GRCm39)	missense	probably damaging	1.00
R1472:Rcn2	UTSW	9	55,963,537 (GRCm39)	missense	probably benign	0.13
R4206:Rcn2	UTSW	9	55,952,491 (GRCm39)	missense	possibly damaging	0.51
R4567:Rcn2	UTSW	9	55,960,266 (GRCm39)	missense	probably benign	0.09
R5032:Rcn2	UTSW	9	55,960,300 (GRCm39)	missense	probably damaging	1.00
R5579:Rcn2	UTSW	9	55,964,713 (GRCm39)	missense	probably benign	0.03
R6298:Rcn2	UTSW	9	55,960,209 (GRCm39)	missense	probably benign	0.13
R6974:Rcn2	UTSW	9	55,960,298 (GRCm39)	nonsense	probably null
R6996:Rcn2	UTSW	9	55,964,845 (GRCm39)	nonsense	probably null
R7229:Rcn2	UTSW	9	55,964,763 (GRCm39)	missense	probably benign	0.05
R7437:Rcn2	UTSW	9	55,965,353 (GRCm39)	missense	probably damaging	1.00
R7828:Rcn2	UTSW	9	55,960,266 (GRCm39)	missense	probably benign	0.09
R8469:Rcn2	UTSW	9	55,952,485 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCATGTCTGCTAACACATCTTG -3'
(R):5'- AAGTCAATCACCCGGTCGTAC -3'

Sequencing Primer
(F):5'- TCAGGTACATAGCGAGACCTTGTC -3'
(R):5'- AATCACCCGGTCGTACATCTGG -3'

Posted On

2022-06-15